Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44250478C>G , CM000679.2:g.44250478C>G | GRCh38 |
| NC_000017.10:g.42327846C>G , CM000679.1:g.42327846C>G | GRCh37 |
| NC_000017.9:g.39683372C>G | NCBI36 |
| NG_007498.1:g.22657G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000342.4:c.2716G>C MANE Select | NP_000333.1:p.Glu906Gln |
| ENST00000262418.12:c.2716G>C MANE Select | ENSP00000262418.6:p.Glu906Gln |
| NM_000342.3:c.2716G>C | NP_000333.1:p.Glu906Gln |
| ENST00000262418.10:c.2716G>C | ENSP00000262418.6:p.Glu906Gln |
| ENST00000399246.3:c.1618G>C | ENSP00000382190.3:p.Glu540Gln |
| XM_005257593.3:c.2521G>C | XP_005257650.1:p.Glu841Gln |
| XM_005257593.5:c.2521G>C | XP_005257650.1:p.Glu841Gln |
| XM_011525129.1:c.2626G>C | XP_011523431.1:p.Glu876Gln |
| XM_011525129.2:c.2626G>C | XP_011523431.1:p.Glu876Gln |